title: Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype.
abstract: The aim of this study was to examine the value of testing for a 22q11 microdeletion in fetuses with nuchal translucency (NT) above the 99th percentile (>3.5 mm). A 22q11 microdeletion results in the development of 22q11 deletion syndrome, a spectrum of disorders also known as DiGeorge/Velocardiofacial syndrome. A total of 146 pregnancies met the inclusion criteria of NT >3.5 mm between 11+2 and 13+6 weeks' gestation, no structural malformation and normal karyotype. Chorionic villi samples were tested with either multiplex ligation-dependent probe amplification (MLPA) or fluorescent in situ hybridization (FISH) analysis for 22q11 microdeletion. None were diagnosed with the microdeletion. The estimated prevalence of 22q11 microdeletion in these otherwise normal fetuses with increased NT is below 2.7%.
authors.affiliation: Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Charlotte Kvist
authors.initials: CK
authors.lastname: Lautrup
authors.forename: Susanne
authors.initials: S
authors.lastname: Kjaergaard
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.forename: Christina
authors.initials: C
authors.lastname: Fagerberg
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.forename: Olav Bennikke Bjørn
authors.initials: OB
authors.lastname: Petersen
authors.forename: Mette Warming
authors.initials: MW
authors.lastname: Jørgensen
authors.forename: Ida
authors.initials: I
authors.lastname: Vogel
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology*; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D013577:Syndrome; D016216:Ultrasonography, Prenatal